2019
Ovarian Torsion in an Adolescent with Beckwith-Wiedemann Syndrome and Unilateral Tubo-ovarian Hyperplasia
Mahat U, Dermawan JKT, Herman R, Mamoun I, Flagg A. Ovarian Torsion in an Adolescent with Beckwith-Wiedemann Syndrome and Unilateral Tubo-ovarian Hyperplasia. Journal Of Pediatric And Adolescent Gynecology 2019, 32: 446-449. PMID: 30981832, DOI: 10.1016/j.jpag.2019.04.008.Peer-Reviewed Case Reports and Technical NotesConceptsBeckwith-Wiedemann syndromeOvarian hyperplasiaBWS patientsAbdominal painOvarian torsionFallopian tubeOvid MEDLINEEmbryonal tumorsDatabases PubMedExtensive literature searchHyperplasiaOvergrowth syndromePatientsPostmortem specimensLiterature searchPhenotypic presentationOrgan hyperplasiaSyndromeBroad phenotypic presentationBrief literature reviewPrevious reportsLiterature reviewOnline searchPainEMBASE
2017
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J. De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Molecular Cytogenetics 2017, 10: 46. PMID: 29270226, PMCID: PMC5738159, DOI: 10.1186/s13039-017-0347-z.Peer-Reviewed Original ResearchBeckwith-Wiedemann syndromeMethylation profilingGenome-wide copy number analysisGain of methylationAberrant methylation patternsIntegrated molecular approachSingle gene mutationsCopy number analysisSegmental uniparental disomyMethylation patternsGenetic mechanismsChromosome 11p15.5Genetic analysisTelomeric endMicroarray analysisMolecular approachesMolecular etiologyDuplicationBWS patientsNumber changesUniparental disomyGenetic defectsChromosome microarray analysisNumber analysisPaternal origin
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply